Next-generation sequencing NEWS ▲ Last Updated: May 26, 2016 || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)






Last Updated: May 26, 2016

• Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
  Vrijenhoek Terry et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1142-50
• Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
  DiNardo Courtney D et al. Clinical lymphoma, myeloma & leukemia 2016 Apr
• Phylogeographic analysis of hemorrhagic fever with renal syndrome patients using multiplex PCR-based next generation sequencing.
  Kim Won-Keun, Kim Jeong-Ah, Song Dong Hyun, Lee Daesang, Kim Yong Chul, Lee Sook-Young, Lee Seung-Ho, No Jin Sun, Kim Ji Hye, Kho Jeong Hoon, Gu Se Hun, Jeong Seong Tae, Wiley Michael, Kim Heung-Chul, Klein Terry A, Palacios Gustavo, Song Jin-Won.Scientific reports 2016 26017
• CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).
  El-Husny Antonette, et al. Genetics and molecular biology 2016 5
• The Challenges of Implementing Next Generation Sequencing Across a Large Healthcare System, and the Molecular Epidemiology and Antibiotic Susceptibilities of Carbapenemase-Producing Bacteria in the Healthcare System of the U.S. Department of Defense.
  Lesho Emil, Clifford Robert, Onmus-Leone Fatma, Appalla Lakshmi, Snesrud Erik, Kwak Yoon, Ong Ana, Maybank Rosslyn, Waterman Paige, Rohrbeck Patricia, Julius Michael, Roth Amanda, Martinez Joshua, Nielsen Lindsey, Steele Eric, McGann Patrick, Hinkle Mary.PloS one 2016 (5) e0155770
• Next-Generation Sequencing of Mycobacterium tuberculosis.
  Mokrousov Igor, Chernyaeva Ekaterina, Vyazovaya Anna, Sinkov Viacheslav, Zhuravlev Viacheslav, Narvskaya Olga.Emerging infectious diseases 2016 Jun (6) 1127-9
• Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
  Rimbert Antoine, et al. Atherosclerosis 2016 4 52-56
• Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.
  Patel Aniruddh P, et al. Atherosclerosis 2016 4 63-68
• A three-step programmed method for the identification of causative gene mutations of maturity onset diabetes of the young (MODY).
  Li Qian, et al. Gene 2016 5
• Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome.
  Ahlenstiel-Grunow Thurid, et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016 5
• Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.
  Wiethoff Sarah, et al. Journal of neurology 2016 5
• Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
  Plantinga Mirjam et al. European journal of human genetics : EJHG 2016 May
• EZH2 mutations and promoter hypermethylation in childhood acute lymphoblastic leukemia.
  Schäfer Vivien, et al. Journal of cancer research and clinical oncology 2016 5
• Discordant Mutations in Paired Primary and Metastatic Endometrial Adenocarcinomas Identified by Semiconductor-Based Sequencing for Rapid Cancer Genotyping.
  Bergstrom Colin P, et al. Reproductive sciences (Thousand Oaks, Calif.) 2016 5
• Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
  Fu Chunyun, et al. BMJ open 2016 0 (5) e010719
• Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified.
  Wang Sa A, et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 5
• An Integrative Genomic Analysis of Formalin Fixed Paraffin-Embedded Archived Serous Ovarian Carcinoma Comparing Long-term and Short-term Survivors.
  Stålberg Karin, et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2016 5
• Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
  Ferbo Ludovica, et al. Blood transfusion = Trasfusione del sangue 2016 4 1-4
• Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
  Magdalena Koczkowska, et al. Cancer medicine 2016 5
• Gene Mutation Profiles in Primary Diffuse Large B Cell Lymphoma of Central Nervous System: Next Generation Sequencing Analyses.
  Todorovic Balint Milena, et al. International journal of molecular sciences 2016 0 (5)
• Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.
  Wang Wei, et al. Neurology 2016 5 (19) 1762-71
• GNAS mutations as prognostic biomarker in patients with relapsed peritoneal pseudomyxoma receiving metronomic capecitabine and bevacizumab: a clinical and translational study.
  Pietrantonio Filippo, et al. Journal of translational medicine 2016 0 (1) 125
• Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.
  Kwong Ava, et al. The Journal of molecular diagnostics : JMD 2016 5
• Comprehensive Genomic Profiling Facilitates Implementation of the National Comprehensive Cancer Network Guidelines for Lung Cancer Biomarker Testing and Identifies Patients Who May Benefit From Enrollment in Mechanism-Driven Clinical Trials.
  Suh James H et al. The oncologist 2016 May
• The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.
  Borecka Marianna, et al. Gene 2016 5
• Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
  Poninska J K, et al. Journal of translational medicine 2016 0 (1) 115
• Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.
  Jelsig Anne Marie, et al. Scandinavian journal of gastroenterology 2016 5 1-8
• Disease vectors in the era of next generation sequencing.
  Rinker David C, Pitts R Jason, Zwiebel Laurence J.Genome biology 2016 (1) 95
• Graph mining for next generation sequencing: leveraging the assembly graph for biological insights.
  Warnke-Sommer Julia, Ali Hesham.BMC genomics 2016 (1) 340
• Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing.
  Stanislaw Christine, et al. Cancer biology & medicine 2016 3 (1) 55-67

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB